Concurrent Sessions C01 - C06 - Saturday, June 6 - 18.30 - 20.00 hrs
| Room | Clyde Auditorium | Hall 5 | Hall 2 | Lomond Auditorium | Hall 1 | Forth Room |
| C01. NIPT | C02. Improvement in genome sequencing and functional studies | C03. Novel genes causing intellectual disability | C04. The many faces of cancer mutations | C05. Cardiovascular disorders | C06. Neuromuscular disorders | |
| 18.30 | C01.1 Implementation of a non-invasive prenatal testing (NIPT) for aneuploidy service in an NHS diagnostic laboratory Lyn S. Chitty, F.J. McKay, S. Mason, C. Boustred, K. Lo, L. Jenkins, R. Daley, M. Hill, C. Lewis, S. Drury, J. Fisher, T. Verhoef, S. Morris; | C02.1 Single cell analysis “simplification” dramatically increases complexity: considerations in technique, quality control, analysis, and possibilities for translation to the clinic Lisa D. White, J.D. Landua, L. Simon, M.T. Bernardi, D. Xavier, C.A. Shaw, M.T. Lewis; | C03.1 De novo and familial DDX3X mutations are associated with X-linked intellectual disability and a diverse phenotypic spectrum Lot Snijders Blok*, E. Madsen, M. Reijnders, H. Venselaar, C. Helsmoortel, C. Gillissen, A. Hoischen, L. Vissers, T. Koemans, W. Wissink, E.E. Eichler, C. Romano, H. Van Esch, C. Stumpel, M. Vreeburg, E. Smeets, B. van Bon, M. Shaw, J. Gecz, M. Bienek, C. Jensen, B. Loeys, A. van Dijck, A.M. Innes, N. Di Donato, S.G. Mehta, K. Tatton-Brown, D. Baralle, A. Henderson, S. Dijkstra, J. Schieving, S. Haas, H. Brunner, F. Kooy, C. van Roozendaal, R. Pfundt, V. Kalscheuer, N. Katsanis, T. Kleefstra; | C04.1 Mosaic loss of chromosome Y (LOY) in peripheral blood is associated with smoking, shorter survival and increased risk of cancer Lars A. Forsberg, C. Rasi, M. Lönn, H. Davies, M. Ingelsson, V. Giedraitis, L. Lannfelt, N.N.C. Cross, D. Absher, P.K.E. Magnusson, C. Lindgren, A.P. Morris, D. Cesarini, M. Johannesson, E. Tiensuu, L. Lind, N.L. Pedersen, E. Ingelsson, J. Dumanski; | C05.1 MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections Mathieu Barbier, M. Gross, M. Aubart, N. Hanna, K. Kessler, D. Guo, L. Tosolini, B. Ho-Tin-Noe, E. Regalado, M. Varret, M. Abifadel, O. Milleron, S. Odent, S. Dupuis-Girod, L. Faivre, T. Edouard, Y. Dulac, T. Busa, L. Gouya, D. Milewicz, G. Jondeau, C. Boileau; | C06.1 Neurogenetic disease diagnostics by targeted capture and next generation sequencing Nigel G. Laing, K. Yau, R. Allcock, R. Ong, K. Mina, G. Ravenscroft, M. Cabrera, R. Gooding, C. Wise, P. Sivadorai, D. Trajanoski, V. Atkinson, S. Wagner, K.J. Nowak, R.M. Duff, P.J. Lamont, M.R. Davis; |
| 18.45 | C01.2 TRIDENT: or monitored NIPT implementation in the Netherlands Erik A. Sistermans, G.H. Schuring-Blom, B.H.W. Faas, E.M.J. Boon, C.J. Bax, A.B.C. Coumans, A.T.J.I. Go, K. Huijsdens-van Amsterdam, M.V.E. Macville, D. van Opstal, E. Pajkrt, B. Sikkema-Raddatz, R.F. Suijkerbuijk, J.M.G. van Vugt, M.M. Weiss, G.C.M.L. Page-Christiaens, D. Oepkes; | C02.2 Large-scale genotyping of polymorphic inversions in the human genome Sergi Villatoro*, R. Zaurin, M. Gayà-Vidal, C. Giner-Delgado, D. Vicente-Salvador, D. Izquierdo, M. Oliva, L. Pantano, M. Puig, M. Cáceres; | C03.2 De novo and recurrent PPP2R5D and PPP2R1A missense mutations cause protein phosphatase 2A dysfunction and intellectual disability Dorien Haesen*, V. Janssens, L.E.L.M. Vissers, S. Mehta, M.J. Parker, M. Wright, J. Vogt, S. McKee, J.L. Tolmie, N. Cordeiro, T. Kleefstra, M.H. Willemsen, M.R.F. Reijnders, S. Berland, E. Hayman, E. Lahat, E.H. Brilstra, K.L.I. van Gassen, E. Zonneveld-Huijssoon, C.I. de Bie, A. Hoischen, E.E. Eichler, R. Holdhus, V.M. Steen, S.O. Døskeland, M.E. Hurles, D.R. FitzPatrick, T. DDD-study, G. Houge; | C04.2 SNP-SNP interaction analysis of NF-kB signaling pathway on breast cancer survival Maral Jamshidi*, R. Fagerholm, S. Khan, K. Aittomäki, D.E. Easton, P. Hall, C. Blomqvist, M.K. Schmidt, H. Nevanlinna, B. C.A.C (Breast Cancer Association Consortium); | C05.2 Mutations in a TGF? ligand, TGFB3, cause syndromic aortic aneurysms and dissections Elisabeth Gillis*, A.M. Bertoli-Avella, H. Morisaki, J.M.A. Verhagen, E. Gallo, B.P.T. Kruithof, S. Laga, A.J. Doyle, G. Oswald, M. Lammens, C. Evers, K. Devriendt, M. Dumoulein, J. Timmermans, I. Rodrigus, G. Baynam, M. Kempers, J. Saenen, E.M. Van Craenenbroeck, K. Minatoya, R. Matsukawa, T. Tsukube, N. Kubo, M. Goumans, J.W. Roos-Hesselink, I.M.B.H. van de Laar, H.C. Dietz, L. Van Laer, T. Morisaki, M.W. Wessels, B.L. Loeys; | C06.2 The SMCHD1 mutation spectrum in Facioscapulohumeral muscular dystrophy Marlinde L. van den Boogaard*, R.J.L.F. Lemmers, P.J. van der Vliet, J. Balog, B. Bakker, S.J. Tapscott, S. Sacconi, R. Tawil, S.M. van der Maarel; |
| 19.00 | C01.3 Non-invasive prenatal diagnosis; expansion from de novo to autosomal recessive disorders using congenital adrenal hyperplasia as an example Suzanne Drury, K. Lo, C. Boustred, F. McKay, S. Mason, P. Twiss, S. Edwards, M. Hill, C. Lewis, R. Daley, L. Jenkins, L. Chitty; | C02.3 Large-scale single-molecule sequencing of tandem repeats on the human X chromosome Alena Zablotskaya*, G. Peeters, W.I.M. Meert, K.J. Verstrepen, G. Froyen, J.R. Vermeesch; | C03.3 Mutations in genes encoding components of protein phosphatase 2A (PP2A) cause human overgrowth and intellectual disability Chey Loveday, K. Tatton-Brown, M. Clarke, I. Westwood, A. Renwick, E. Ruark, E. Ramsay, R. van Montfort, N. Rahman; | C04.3 Towards understanding the genomic architecture of cancer genomes Ernest T. Lam*, A.R. Hastie, M.B. Imielinski, C. Zhang, J. Wala, Z. Dzakula, H. Cao; | C05.3 Exome-chip meta-analysis identifies novel associations of coding variants with cardiac conduction in 62,251 adults of European descent from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Yalda Jamshidi, B.P. Prins, C. Liu, J. van Setten, L. Hall, F. Radmanesh, CHARGE Consortium Exome-Chip EKG Working Group; | C06.3 Plastin 3, a human protective modifier is highly upregulated in iPSC-derived motoneurons in asymptomatic individuals and rescues spinal muscular atrophy in mice M. Peters, L. Heesen, S. Hosseini Barkooie, M. Peitz, A. Kaczmarek, E. Janzen, O. Brüstle, Brunhilde Wirth; |
| 19.15 | C01.4 Non-invasive prenatal diagnosis (NIPD) of Duchenne and Becker muscular dystrophies (DMD/BMD) by relative haplotype dosage Michael Parks*, S. Court, S. Cleary, S. Clokie, J. Hewitt, D. Williams, T. Cole, F. MacDonald, M. Griffiths, S.K. Allen; | C02.4 The value of long-read single molecule sequencing in diagnostics S.Y. Anvar, H. Buermans, R. Vossen, M. Liem, Monique Losekoot, T. van der Straaten, H. van der Klift, J. Wijnen, J. Swen, D. Peters, J. T. den Dunnen; | C03.4 De novo mutations in BCL11A cause developmental delay: additional implications of the BAF SWI/SNF complex in intellectual disability and autism Cristina Dias*, J.A. Hurst, S. Joss, S.E. Holder, G. Sánchez-Andrade, S.J. Sawiak, S. Lee, P. Liu, M.E. Hurles, D.D.D. Deciphering Developmental Disorders Study, D.W. Logan; | C04.4 Molecular classification of diffuse cerebral gliomas using genome- and transcriptomewide profiling. M. Weller, R.G. Weber, E. Willscher, V. Riehmer, B. Hentschel, M. Kreuz, J. Felsberg, Ulrike Beyer, H. Wirth, K. Kaulich, J. Steinbach, C. Hartmann, D. Gramatzki, J. Schramm, M. Westphal, G. Schackert, M. Simon, T. Martens, J. Boström, C. Hagel, M. Sabel, D. Krex, J.C. Tonn, W. Wick, S. Noell, U. Schlegel, B. Radlwimmer, T. Pietsch, M. Loeffler, A. von Deimling, H. Binder, G. Reifenberger, German Glioma Network; | C05.4 A genome-wide association study of nonsyndromic mitral valve prolapse and functional studies of risk loci provide insight into underlying biological mechanisms Nabila Bouatia-Naji, C. Dina, N. Tucker, R.A. Norris, D. Milan, S. Slaugenhaupt, R.A. Levine, J. Schott, A.A. Hagège, X. Jeunemaitre; | C06.4 Analysis of the Gdap1 knockout mice reveals calcium homeostasis and mitochondrial dynamics defects in the Charcot-Marie-Tooth disease pathogenesis Azahara Civera-Tregón*, P. Juárez, M. Barneo-Muñoz, S. Fernández-Lizarbe, D. Pla-Martin, J. Zenker, C. Cuevas-Martín, M. Sánchez-Aragó, J. Forteza-Vila, J.M. Cuezva, R. Chrast, F. Palau; |
| 19.30 | C01.5 Incidental findings of genome wide non-invasive fetal aneuploidy detection (NIPT): presymptomatic identification of maternal cancers Nathalie Brison*, K. Van Den Bogaert, P. Brady, L. Dehaspe, I. Wlodarska, F. Amant, P. Vandenberghe, T. de Ravel, H. Peeters, H. Van Esch, K. Devriendt, E. Legius, J.R. Vermeesch; | C02.5 Comparison of exome and genome sequencing technologies for the complete capture of protein coding regions Stefan H. Lelieveld*, M. Spielmann, S. Mundlos, J.A. Veltman, C. Gilissen; | C03.5 De novo loss-of-function mutations in WAC in the 10p12p11 critical region cause intellectual disability Margot R.F. Reijnders*, D. Lugtenberg, M. Fenckova, E.K. Bijlsma, B.W.M. van Bon, A.T. Vulto- van Silfhout, D.G.M. Bosch, E.E. Eichler, H.C. Mefford, R. Pfundt, H.G. Yntema, P.F. de Vries, J.A. Veltman, B.B.A. de Vries, A. Hoichen, A. Schenck, T. Kleefstra, L.E.L.M. Vissers; | C04.5 Vaccination with monocyte-derived dendritic cells in Lynch syndrome patients: vigorous T cell responses to neoantigen frameshift-derived peptides. Nicoline Hoogerbrugge, H. Westdorp, G. Schreibelt, K. Bol, M. Welzen, J. Krieken, T. Bisseling, M. Ligtenberg, W. Gerritsen, C. Figdor, I. Vries; | C05.5 Recessive mutations in matrix metallopeptidase 21 (MMP21) cause heterotaxy in humans Anne Guimier*, G. Gabriel, F. Bajolle, M. Tsang, M. Schwartz, A. Noll, L. Smith, H. Yagi, C. Saunders, C. Baker, M. Oufadem, N. Miller, K. Peterson, I. Thiffault, N. Klena, C. Bole-Feysot, P. Nitschke, S. Lyonnet, L. de Pontual, S. Murray, D. Bonnet, S. Kingsmore, J. Amiel, P. Bouvagnet, C. Lo, C. Gordon; | C06.5 Junctophilin-1 expression levels could modify the effects of GDAP1 mutations in Charcot-Marie-Tooth disease Eduardo Calpena*, V. Lupo, T. Sevilla, F. Palau, I. Galindo, C. Espinós; |
| 19.45 | C01.6 Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening - an ESHG/ASHG position statement Wybo Dondorp, G. de Wert, C.G. Van El, M.C. Cornel; | C02.6 A significant proportion of de novo point mutations arise post-zygotically R. Acuna-Hidalgo, T. Bo, M. Kwint, M. van de Vorst, M. Pinelli, J.A. Veltman, H. Alexander, L.E.L.M. Vissers, Christian Gilissen; | C03.6 A novel syndrome of learning disability and obesity caused by 6q16 deletions encompassing the essential neurogenesis factor POU3F2 (Brn2) helps to delineate the neuro-endocrine pathway for body-mass control Siddharth Banka, P. Kasher, K.E. Schertz, M. Thomas, S. Annunziata, M. Ballesta, P. Campeau, J.L. Eaton, T. Granata, E. Guillén-Navarro, A. Jackson, C.E. Laverriere, A. Liedén, O.V. Marcos, A. Nordgren, C. Pantaleoni, C. Pebrel-Richard, F.L. Sciacca, C. Sarret, R. Wright, B. Kerr, E. Glasgow; | C04.6 Through the looking glass: the reversion of EMT Patricia Oliveira*, J. Carvalho, S. Rocha, M. Azevedo, A. Vieira, D. Ferreira, N. Mendes, I. Reis, J. Vinagre, A. Heravi-Moussavi, J. Nunes, J. Lima, V. Maximo, A. Burleigh, C. Roskelley, F. Carneiro, R. Seruca, J. Paredes, D. Huntsman, C. Oliveira; | C05.6 Somatic/mosaic mutations are an important cause of sporadic vascular anomalies. Miikka Vikkula, A. Mendola, J. Soblet, M. Schlögel, M. Amyere, P. Brouillard, N. Limaye, L.M. Boon; | C06.6 CCDC174 mutation underlies a syndrome of hypotonia and psychomotor developmental delay with abducens nerve palsy Michael Volodarsky*, H. Lichtig, T. Leibson, Y. Sadaka, K. Leibson, L. Gradstein, Z. Shorer, R. Shaco-Levy, D. Frank, O.S. Birk; |
City & Country refer to presenting authors
* indicates Young Investigator Award Candidates